Varaico: Literature-Extracted Genetic Variants

MUTYH

1,121 papers

RefSeq Summary

This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytos...

Pfam Domains

HhH-GPDaa 118–254UCSCHhH-GPD superfamily base excision DNA repair protein

HHHaa 182–212UCSCHelix-hairpin-helix motif

HHHaa 193–223UCSCHelix-hairpin-helix motif

NUDIX_4aa 360–482UCSCNUDIX domain

NUDIX_4aa 371–493UCSCNUDIX domain

Gene Aliases

HGNC Name

mutY DNA glycosylase

HGNC Previous Name

mutY homolog (E. coli)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001048174.2

p.R213R

c.639G>T

Surrounding Variants

1 paper

NM_001048174.2

p.R213R

c.639G>A

1 paper

NM_012222.3

p.V239L

c.715G>T

1 paper

NM_001048174.2

p.R213L

c.638G>T

2 papers

NM_001128425.2

p.V242L

c.724G>C

NM_012222.3

p.V239L

c.715G>C

5 papers

NM_001048174.2

p.R213Q

c.638G>A

2 papers

NM_001128425.2

p.V242M

c.724G>A

NM_001048174.2

p.V214M

c.640G>A

1 paper

NM_001048174.2

p.V214A

c.641T>C

31 papers

NM_001048174.2

p.R213W

c.637C>T

NM_001128425.2

p.R241W

c.721C>T

NM_001293190.2

p.R228W

c.682C>T

NM_012222.3

p.R238W

c.712C>T

1 paper

NM_001048174.2

p.R213_V214insT

c.637_641ins3

1 paper

NM_001048174.2

p.V211_R213Fs

c.632_637delinsCAGCTGCTFs

1 paper

NM_001048174.2

p.A212A

c.636A>T

5 papers

NM_001048174.2

p.L215L

c.643C>T